Analysis of the sarcomere protein gene mutation on cardiomyopathy - Mutations in the cardiac troponin I gene

Legal Medicine

Volumn 12, Issue 6, 2010, Pages 280-283

  Murakami, Chikako ^a   Nakamura, Shigeki ^a   Kobayashi, Masamune ^a   Maeda, Kazuho ^a   Irie, Wataru ^a   Wada, Bunta ^a   Hayashi, Maiko ^a   Sasaki, Chizuko ^a   Nakamaru, Naomi ^a   Furukawa, Masataka ^a   Kurihara, Katsuyoshi ^a  

^a KITASATO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Cardiac sudden death; Dilated cardiomyopathy; Hypertrophic cardiomyopathy; Troponin I

Indexed keywords

CARDIAC TROPONIN I; PROLINE; THREONINE; TROPONIN I; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; AUTOPSY; CAUSE OF DEATH; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; FEMALE; FORENSIC PATHOLOGY; GENE FREQUENCY; HEART DEATH; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INTRON; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; PREVALENCE; RISK REDUCTION; SARCOMERE; SINGLE NUCLEOTIDE POLYMORPHISM; SUDDEN DEATH;

ADULT; AGED; AUTOPSY; CARDIOMYOPATHY, DILATED; DEATH, SUDDEN, CARDIAC; FEMALE; FORENSIC PATHOLOGY; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, GENETIC; SARCOMERES; SEQUENCE ANALYSIS, DNA; TROPONIN I;

EID: 77957277694     PISSN: 13446223     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.legalmed.2010.07.002     Document Type: Article

References (24)

1. Rodriguez-Calvo M.S., Brion M., Allegue C., Concheiro L., Carracedo A. Molecular genetics of sudden cardiac death. Forensic Sci Int 2008, 182:1-12.
2. Madea B. Sudden death, especially in infancy - improvement of diagnosis by biochemistry, immunohistochemistry and molecular pathology. Legal Med 2009, 11:S36-S42.
3. Nishio H., Iwata M., Tamura A., Miyazaki T., Tsuboi K., Suzuki K. Identification of a novel mutation of V2321M of the cardiac ryanodine receptor gene of sudden unexplained death and a phenotypic study of the gene mutations. Legal Med 2008, 10:196-200.
4. Richardson P., McKenna W., Bristow M., Maisch B., Mautner B., O'Connell J. 1995 World Health Organization/International Society and Federation of Cardiology task force on the definition and classification of cardiomyopathies. Circulation 1996, 93:841-842.
5. Marian A.J., Roberts R. The molecular genetic basis for hypertrophic cardiomyopathy. J Mol Cell Cardiol 2001, 33:655-670.
6. Kimura A., Harada H., Park J.E., Nishi H., Satoh M., Takahashi M. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat Genet 1997, 16:379-382.
7. Kimura A., Ito-Satoh M., Hayashi T., Takahashi M., Arimura T. Molecular etiology of idiopathic cardiomyopathy in Asian populations. J Cardiol 2001, 37(Suppl. 1):139-146.
8. Fatkin D., Graham R.M. Molecular mechanisms of inherited cardiomyopathies. Physiol Rev 2002, 82:945-980.
9. 2+-saturated form. Nature 2003, 424:35-41.
10. Vallins W.J., Brand N.J., Dabhade N., Butler-Browne G., Yacoub M.H., Barton P.J.R. Molecular cloning of human cardiac troponin I using polymerase chain reaction. FEBS Lett 1990, 270:57-61.
11. Zhang R., Zhao J., Mandveno A., Potter J.D. Cardiac troponin I phosphorylation increases the rate of cardiac muscle relaxation. Circ Res 1995, 76:1028-1035.
12. Elliott K., Watkins H., Redwood C.S. Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy. J Biol Chem 2000, 275:22069-22074.
13. Takahashi-Yanaga F., Morimoto S., Harada K., Minakami R., Shiraishi F., Ohta M. Functional consequences of the mutations in human cardiac troponin I gene found in familial hypertrophic cardiomyopathy. J Mol Cell Cardiol 2001, 33:2095-2107.
14. MaKenna W.J., Thiene G., Nava A., Fontaliran F., Blomstrom-Lundqvist C., Fontaine G. Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cariomyopathies of the International Society and Federation of Cardiology. Br Heart J 1994, 71:215-218.
15. Shimizu M., Ino H., Yasuda T., Fujino N., Uchiyama K., Mabuchi T. Gene mutations in adult Japanese patients with dilated cardiomyopathy. Circ J 2005, 69:150-153.
16. Murphy R.T., Mogensen J., Shaw A., Kubo T., Hughes S., Mckenna W.J. Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy. Lancet 2004, 363:371-372.
17. 2+-desensitizing effect of a deletion mutation Δk210 in cardiac troponin T that causes familial dilated cardiomyopathy. Proc Natl Acad Sci USA 2002, 99:913-918.
18. 2+ affinity of cardiac thin filaments reconstituted with cardiomyopathy-related mutant cardiac troponin I. J Biol Chem 2006, 281:13471-13477.
19. Biesiadecki B.J., Kobayashi T., Walker J.S., Solaro R.J., de Tombe P.P. The troponin C G159D mutation blunts myofilament desensitization induced by troponin I Ser23/24 phosphorylation. Circ Res 2007, 100:1486-1493.
20. Tao T., Gong B.J., Leavis P.C. Calcium-induced movement of troponin-I relative to actin in skeletal muscle thin filaments. Science 1990, 247:1339-1341.
21. Arad M., Penas-Lado M., Monserrat L., Maron B.J., Sherrid M., Ho C.Y. Gene mutations in apical hypertrophic cardiomyopathy. Circulation 2005, 112:2805-2811.
22. Malhotra A., Nakouzi A., Bowman J., Buttrick P. Expression and regulation of mutant forms of cardiac TnI in a reconstituted actomyosin system: role of kinase dependent phosphorylation. Mol Cell Biochem 1997, 170:99-107.
23. Robberson B.L., Cote G.J., Berget S.M. Exon definition may facilitate splice site selection in RNAs with multiple exons. Mol Cell Biol 1990, 10:84-94.
24. Sterner D.A., Berget S.M. In vivo recognition of a vertebrate mini-exon as an exon-intron-exon unit. Mol Cell Biol 1993, 13:2677-2687.